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Article

Dominant SCN2A mutation with variable phenotype in two generations.

Brain & development - 1 Jan 2021

Passi Gouri Rao, Mohammad Shekeeb S

Abstract excerpt

BACKGROUND: SCN2A mutations are some of the commonest causes of neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia. CASE REPORT: We present a patient with a dominantly inherited SCN2A mutation presenting as episodic ataxia in a boy and episodic hemiplegia in his father. We have briefly reviewed the literature of SCN2A...

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Identifiers

PMID: 32893078
DOI: 10.1016/j.braindev.2020.08.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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